{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138403", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=371419[alleleid]", "alleleId": 371419, "preferredName": "NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379219", "RCV": [ "RCV000552853", "RCV000432257", "RCV001015533", "RCV003237841" ], "variationId": 379219 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98229521-G-C", "id": "9-98229521-G-C", "variant": "9:98229521 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98229521G>C?assembly=hg19", "id": "chr9:g.98229521G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95467239G>C?assembly=hg38", "id": "chr9:g.95467239G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45579032", "rs": 45579032 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98229521-G-C?dataset=gnomad_r2_1", "id": "9-98229521-G-C", "variant": "9:98229521 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467239-G-C?dataset=gnomad_r3", "id": "9-95467239-G-C", "variant": "9:95467239 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467239-G-C?dataset=gnomad_r4", "id": "9-95467239-G-C", "variant": "9:95467239 G / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95467239, "referenceAllele": "G", "start": 95467238 } ], "hgvs": [ "NC_000009.12:g.95467239G>C", "CM000671.2:g.95467239G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98229521, "referenceAllele": "G", "start": 98229520 } ], "hgvs": [ "NC_000009.11:g.98229521G>C", "CM000671.1:g.98229521G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97269342, "referenceAllele": "G", "start": 97269341 } ], "hgvs": [ "NC_000009.10:g.97269342G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 54727, "referenceAllele": "C", "start": 54726 } ], "hgvs": [ "NG_007664.1:g.54727C>G", "LRG_515:g.54727C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2739, "referenceAllele": "C", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2239C>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro747Ala", "hgvsWellDefined": "ENSP00000518556.1:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 2585, "referenceAllele": "C", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2434C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro812Ala", "hgvsWellDefined": "ENSP00000389744.2:p.Pro812Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2434C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2434C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro812Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro812Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*745C>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*745C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 2125, "referenceAllele": "C", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1984C>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro662Ala", "hgvsWellDefined": "ENSP00000510238.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 3342, "referenceAllele": "C", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2437C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro813Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2437C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2437C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro813Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro813Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 2737, "referenceAllele": "C", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2437C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro813Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 2579, "referenceAllele": "C", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2434C>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro812Ala", "hgvsWellDefined": "ENSP00000364423.2:p.Pro812Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 2206, "referenceAllele": "C", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2206C>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2206C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1984C>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro662Ala", "hgvsWellDefined": "ENSP00000396135.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 2343, "referenceAllele": "C", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1984C>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro662Ala", "hgvsWellDefined": "ENSP00000399981.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1984C>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro662Ala", "hgvsWellDefined": "ENSP00000414823.2:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2239C>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro747Ala", "hgvsWellDefined": "ENSP00000410287.2:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2239C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro747Ala", "hgvsWellDefined": "ENSP00000389744.1:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA645506236", "coordinates": [ { "allele": "G", "end": 2625, "referenceAllele": "C", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2437C>G", "LRG_515t1:c.2437C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro813Ala", "hgvsWellDefined": "NP_000255.2:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489272", "coordinates": [ { "allele": "G", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2239C>G", "LRG_515t2:c.2239C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro747Ala", "hgvsWellDefined": "NP_001077071.1:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495658", "coordinates": [ { "allele": "G", "end": 2579, "referenceAllele": "C", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2434C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro812Ala", "hgvsWellDefined": "NP_001077072.1:p.Pro812Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502833", "coordinates": [ { "allele": "G", "end": 2343, "referenceAllele": "C", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077073.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507194", "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077074.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510190", "coordinates": [ { "allele": "G", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077075.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513059", "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077076.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 481, "endIntronDirection": "+", "endIntronOffset": 19, "referenceAllele": "G", "start": 481, "startIntronDirection": "+", "startIntronOffset": 18 } ], "hgvs": [ "NR_038982.1:n.481+19G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "G", "end": 2183, "referenceAllele": "C", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1984C>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro662Ala", "hgvsWellDefined": "XP_005252159.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 2481, "referenceAllele": "C", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2281C>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro761Ala", "hgvsWellDefined": "XP_011517170.1:p.Pro761Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 2132, "referenceAllele": "C", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1984C>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro662Ala", "hgvsWellDefined": "XP_011517171.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 2120, "referenceAllele": "C", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1984C>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro662Ala", "hgvsWellDefined": "XP_011517172.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 2107, "referenceAllele": "C", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1984C>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro662Ala", "hgvsWellDefined": "XP_011517173.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 2090, "referenceAllele": "C", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1984C>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro662Ala", "hgvsWellDefined": "XP_011517174.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 1884, "referenceAllele": "C", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1597C>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro533Ala", "hgvsWellDefined": "XP_011517175.1:p.Pro533Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2437C>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Pro813Ala", "hgvsWellDefined": "XP_011517176.1:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645506236", "coordinates": [ { "allele": "G", "end": 2625, "referenceAllele": "C", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2437C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro813Ala", "hgvsWellDefined": "NP_000255.2:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489272", "coordinates": [ { "allele": "G", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2239C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro747Ala", "hgvsWellDefined": "NP_001077071.1:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495658", "coordinates": [ { "allele": "G", "end": 2579, "referenceAllele": "C", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2434C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro812Ala", "hgvsWellDefined": "NP_001077072.1:p.Pro812Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502833", "coordinates": [ { "allele": "G", "end": 2343, "referenceAllele": "C", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077073.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507194", "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077074.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510190", "coordinates": [ { "allele": "G", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077075.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513059", "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077076.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033437", "coordinates": [ { "allele": "G", "end": 2469, "referenceAllele": "C", "start": 2468 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2281C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro761Ala", "hgvsWellDefined": "NP_001341847.1:p.Pro761Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2459, "referenceAllele": "C", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2459C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506236", "coordinates": [ { "allele": "G", "end": 3342, "referenceAllele": "C", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2437C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro813Ala", "hgvsWellDefined": "NP_000255.2:p.Pro813Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2437C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2437C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro813Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro813Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510190", "coordinates": [ { "allele": "G", "end": 2435, "referenceAllele": "C", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077075.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033437", "coordinates": [ { "allele": "G", "end": 3186, "referenceAllele": "C", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2281C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro761Ala", "hgvsWellDefined": "NP_001341847.1:p.Pro761Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 3176, "referenceAllele": "C", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3176C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489272", "coordinates": [ { "allele": "G", "end": 2739, "referenceAllele": "C", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2239C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro747Ala", "hgvsWellDefined": "NP_001077071.1:p.Pro747Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495658", "coordinates": [ { "allele": "G", "end": 2585, "referenceAllele": "C", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2434C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro812Ala", "hgvsWellDefined": "NP_001077072.1:p.Pro812Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2434C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2434C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro812Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro812Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502833", "coordinates": [ { "allele": "G", "end": 2343, "referenceAllele": "C", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077073.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507194", "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077074.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513059", "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1984C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro662Ala", "hgvsWellDefined": "NP_001077076.1:p.Pro662Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }